Variant report

Variant	rs17083082
Chromosome Location	chr4:54447415-54447416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54443761..54445793-chr4:54446914..54449047,2	K562	blood:
2	chr4:54446175..54448848-chr4:54454621..54458012,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072201	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13127018	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13144237	0.89[EUR][1000 genomes]
rs62323647	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs932039	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs979006	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54425200-54457400	Weak transcription	Right Atrium	heart
2	chr4:54431200-54456600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:54438600-54452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:54439000-54447600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:54439000-54454800	Weak transcription	Left Ventricle	heart
6	chr4:54439200-54454600	Weak transcription	Aorta	Aorta
7	chr4:54442400-54448400	Weak transcription	Esophagus	oesophagus
8	chr4:54443400-54448400	Weak transcription	Fetal Kidney	kidney
9	chr4:54443400-54448600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:54443400-54451800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:54443600-54448000	Weak transcription	HepG2	liver
12	chr4:54443600-54451800	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:54443600-54452400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:54443600-54457000	Weak transcription	Colonic Mucosa	Colon
15	chr4:54443800-54447800	Weak transcription	Pancreas	Pancrea
16	chr4:54443800-54448400	Weak transcription	Liver	Liver
17	chr4:54443800-54448400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:54443800-54451600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:54443800-54451800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:54443800-54451800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:54443800-54452600	Weak transcription	Fetal Intestine Large	intestine
22	chr4:54443800-54453600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:54444000-54454600	Weak transcription	Placenta	Placenta
24	chr4:54444600-54448200	Weak transcription	Ovary	ovary
25	chr4:54445800-54447800	Weak transcription	Fetal Heart	heart
26	chr4:54446600-54449400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:54446600-54449800	Weak transcription	NHDF-Ad	bronchial
28	chr4:54446800-54451600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:54446800-54451800	Weak transcription	Osteobl	bone
30	chr4:54447200-54447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:54447200-54452400	Weak transcription	Fetal Brain Male	brain
32	chr4:54447400-54448400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:54447400-54448400	Weak transcription	Fetal Lung	lung
34	chr4:54447400-54454800	Weak transcription	Gastric	stomach

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